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Neonatal epileptic encephalopathy due to glutaminase deficiency

Disease definition

A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.

ORPHA:557064

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: G40.4
  • OMIM: 618328
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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